石骨症1家系6例报告并文献复习

Osteopetrosis:6 Cases Report In a Family and Literature Review

目的:探索石骨症(Osteopetrosis)的临床特点、X线表现、治疗方法,提高对本病的认识,提高诊断率。方法:对1家系6例石骨症患者的临床资料进行分析并复习文献。结果:石骨症是罕见的家族性先天性骨疾病,以骨密度增高为主要表现,分常染色体显性遗传和常染色体隐性遗传,分型不同,临床表现不同,X线有特征性改变,治疗上以对症治疗为主,造血干细胞移植被用于治疗本病。结论:熟悉石骨症的临床表现及X线特点,可提高诊断率。

Objective： To investigate the clinical manifestation, X-ray features, treatment of osteopetrosis, and improve the acutance of diagnosis. Methods：The clinical manifestation of 6 cases in a family of osteopetrosis was analyzed and the related literature was reviewed. Results：Osteopetrosis is a group of rare, heritable disorders of the skeleton characterized by increased bone density with typical X-ray manifestation. It can be divided into autosomal recessive osteopetrosis （ARO） and autosomal dominant osteopetrosis （ADO）. The prognosis vary greatly in different clinical type. The treatment is largely supportive and haematopoietic stem cell transplantation is used to cure this disease. Conclusion：Further understanding of the clinical manifestation and X-ray features of osteopetrosis can improve the acutance of diagnosis.